Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs148000791
AHI1
0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 1
rs730882213
ADAT3 ; SCAMP4
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 3
rs1555736565
CACNA1A
0.925 0.080 19 13230191 missense variant C/A;T snv 3
rs148677674
LZTR1
0.882 0.160 22 20994988 missense variant C/A;T snv 2.4E-05; 1.6E-04 3
rs1557006873
HUWE1
0.925 0.280 X 53615786 missense variant A/C snv 4
rs1555247805
MED13L
0.925 0.160 12 116008442 frameshift variant A/- del 4
rs1057518926
FOXP1
0.925 0.120 3 70977675 missense variant G/C snv 5
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv 5
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06 5
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/G snv 5
rs1553196134
CDC42
0.925 0.080 1 22086856 missense variant C/T snv 6
rs730882203
DMBX1
0.851 0.080 1 46510953 missense variant C/T snv 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs587777449
IFIH1
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 6
rs752134549
RSRC2
0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 6
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs1057519436
DHX30
0.882 0.200 3 47846550 missense variant G/A snv 7
rs869312822
GNB1
0.827 0.200 1 1806514 missense variant A/C snv 7
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7